Canonical Allele Identifier: CA1866959763
Gene: GABBR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98380522_98380523delinsCT , CM000671.2:g.98380522_98380523delinsCT GRCh38
NC_000009.11:g.101142804_101142805delinsCT , CM000671.1:g.101142804_101142805delinsCT GRCh37
NC_000009.10:g.100182625_100182626delinsCT NCBI36
NG_016426.1:g.333675_333676delinsAG

Transcript Alleles

HGVS Amino-acid change
ENST00000259455.4:c.1662+5117_1662+5118delinsAG MANE Select ENSP00000259455.2:n.1662+5117_1662+5118delinsAG
ENST00000637410.1:n.1440+5117_1440+5118delinsAG
ENST00000259455.3:c.1662+5117_1662+5118delinsAG ENSP00000259455.2:n.1662+5117_1662+5118delinsAG
ENST00000634314.1:n.167+5117_167+5118delinsAG
NM_005458.7:c.1662+5117_1662+5118delinsAG NP_005449.5:n.1662+5117_1662+5118delinsAG
XM_005252316.3:c.888+5117_888+5118delinsAG XP_005252373.1:n.888+5117_888+5118delinsAG
XM_005252316.5:c.888+5117_888+5118delinsAG XP_005252373.1:n.888+5117_888+5118delinsAG
XM_017015331.2:c.1368+5117_1368+5118delinsAG XP_016870820.1:n.1368+5117_1368+5118delinsAG
XM_017015332.2:c.888+5117_888+5118delinsAG XP_016870821.1:n.888+5117_888+5118delinsAG
NM_005458.8:c.1662+5117_1662+5118delinsAG MANE Select NP_005449.5:n.1662+5117_1662+5118delinsAG